Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9821
Gene name	RB1 inducible coiled-coil 1
Gene symbol	RB1CC1
Synonyms (NCBI Gene)	ATG17CC1FIP200PPP1R131
Chromosome	8
Chromosome location	8q11.23
Summary	The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Al

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007127	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT020069	hsa-miR-375	Microarray	20215506
MIRT027791	hsa-miR-98-5p	Microarray	19088304
MIRT041413	hsa-miR-193b-3p	CLASH	23622248
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	Luciferase reporter assay	27615604
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT1293417	hsa-miR-1284	CLIP-seq
MIRT1293418	hsa-miR-4277	CLIP-seq
MIRT1293419	hsa-miR-4282	CLIP-seq
MIRT1293420	hsa-miR-4328	CLIP-seq
MIRT1293421	hsa-miR-582-5p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2087177	hsa-miR-539	CLIP-seq
MIRT2087178	hsa-miR-580	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2087180	hsa-miR-938	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2393515	hsa-miR-142-5p	CLIP-seq
MIRT2393516	hsa-miR-186	CLIP-seq
MIRT2393517	hsa-miR-3133	CLIP-seq
MIRT2393518	hsa-miR-3152-3p	CLIP-seq
MIRT2393519	hsa-miR-340	CLIP-seq
MIRT2608402	hsa-miR-105	CLIP-seq
MIRT2608403	hsa-miR-106a	CLIP-seq
MIRT2608404	hsa-miR-106b	CLIP-seq
MIRT2608405	hsa-miR-1205	CLIP-seq
MIRT2608406	hsa-miR-122	CLIP-seq
MIRT2608407	hsa-miR-1236	CLIP-seq
MIRT2608408	hsa-miR-1244	CLIP-seq
MIRT2608409	hsa-miR-1245b-3p	CLIP-seq
MIRT2608410	hsa-miR-1286	CLIP-seq
MIRT2608411	hsa-miR-135a	CLIP-seq
MIRT2608412	hsa-miR-135b	CLIP-seq
MIRT2608413	hsa-miR-138	CLIP-seq
MIRT2608414	hsa-miR-141	CLIP-seq
MIRT2393515	hsa-miR-142-5p	CLIP-seq
MIRT2608415	hsa-miR-153	CLIP-seq
MIRT2608416	hsa-miR-17	CLIP-seq
MIRT2608417	hsa-miR-1827	CLIP-seq
MIRT2393516	hsa-miR-186	CLIP-seq
MIRT2608418	hsa-miR-1912	CLIP-seq
MIRT2608419	hsa-miR-200a	CLIP-seq
MIRT2608420	hsa-miR-203	CLIP-seq
MIRT2608421	hsa-miR-204	CLIP-seq
MIRT2608422	hsa-miR-20a	CLIP-seq
MIRT2608423	hsa-miR-20b	CLIP-seq
MIRT2608424	hsa-miR-211	CLIP-seq
MIRT2608425	hsa-miR-24	CLIP-seq
MIRT2608426	hsa-miR-302a	CLIP-seq
MIRT2608427	hsa-miR-302b	CLIP-seq
MIRT2608428	hsa-miR-302c	CLIP-seq
MIRT2608429	hsa-miR-302d	CLIP-seq
MIRT2608430	hsa-miR-302e	CLIP-seq
MIRT2608431	hsa-miR-3121-3p	CLIP-seq
MIRT2393517	hsa-miR-3133	CLIP-seq
MIRT2608432	hsa-miR-3140-3p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2608433	hsa-miR-3147	CLIP-seq
MIRT2393518	hsa-miR-3152-3p	CLIP-seq
MIRT2608434	hsa-miR-3168	CLIP-seq
MIRT2608435	hsa-miR-3198	CLIP-seq
MIRT2393519	hsa-miR-340	CLIP-seq
MIRT2608436	hsa-miR-361-5p	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2608437	hsa-miR-3663-3p	CLIP-seq
MIRT2608438	hsa-miR-370	CLIP-seq
MIRT2608439	hsa-miR-371b-5p	CLIP-seq
MIRT2608440	hsa-miR-372	CLIP-seq
MIRT2608441	hsa-miR-373	CLIP-seq
MIRT2608442	hsa-miR-376a	CLIP-seq
MIRT2608443	hsa-miR-376b	CLIP-seq
MIRT2608444	hsa-miR-3920	CLIP-seq
MIRT2608445	hsa-miR-4280	CLIP-seq
MIRT2608446	hsa-miR-4284	CLIP-seq
MIRT2608447	hsa-miR-4309	CLIP-seq
MIRT2608448	hsa-miR-4310	CLIP-seq
MIRT2608449	hsa-miR-4418	CLIP-seq
MIRT2608450	hsa-miR-4425	CLIP-seq
MIRT2608451	hsa-miR-4426	CLIP-seq
MIRT2608452	hsa-miR-4427	CLIP-seq
MIRT2608453	hsa-miR-4436a	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2608454	hsa-miR-4464	CLIP-seq
MIRT2608455	hsa-miR-4470	CLIP-seq
MIRT2608456	hsa-miR-448	CLIP-seq
MIRT2608457	hsa-miR-4490	CLIP-seq
MIRT2608458	hsa-miR-450b-5p	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT2608459	hsa-miR-4647	CLIP-seq
MIRT2608460	hsa-miR-4649-3p	CLIP-seq
MIRT2608461	hsa-miR-4662b	CLIP-seq
MIRT2608462	hsa-miR-4668-3p	CLIP-seq
MIRT2608463	hsa-miR-4680-3p	CLIP-seq
MIRT2608464	hsa-miR-4698	CLIP-seq
MIRT2608465	hsa-miR-4699-5p	CLIP-seq
MIRT2608466	hsa-miR-4704-3p	CLIP-seq
MIRT2608467	hsa-miR-4705	CLIP-seq
MIRT2608468	hsa-miR-4709-3p	CLIP-seq
MIRT2608469	hsa-miR-4719	CLIP-seq
MIRT2608470	hsa-miR-4722-5p	CLIP-seq
MIRT2608471	hsa-miR-4738-3p	CLIP-seq
MIRT2608472	hsa-miR-4742-5p	CLIP-seq
MIRT2608473	hsa-miR-4747-5p	CLIP-seq
MIRT2608474	hsa-miR-4748	CLIP-seq
MIRT2608475	hsa-miR-4755-5p	CLIP-seq
MIRT2608476	hsa-miR-4765	CLIP-seq
MIRT2608477	hsa-miR-4777-5p	CLIP-seq
MIRT2608478	hsa-miR-4781-3p	CLIP-seq
MIRT2608479	hsa-miR-4789-5p	CLIP-seq
MIRT2608480	hsa-miR-483-3p	CLIP-seq
MIRT2608481	hsa-miR-494	CLIP-seq
MIRT2608482	hsa-miR-498	CLIP-seq
MIRT2608483	hsa-miR-507	CLIP-seq
MIRT2608484	hsa-miR-509-3-5p	CLIP-seq
MIRT2608485	hsa-miR-509-5p	CLIP-seq
MIRT2608486	hsa-miR-513b	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2608487	hsa-miR-519d	CLIP-seq
MIRT2608488	hsa-miR-520a-3p	CLIP-seq
MIRT2608489	hsa-miR-520b	CLIP-seq
MIRT2608490	hsa-miR-520c-3p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2608491	hsa-miR-520d-3p	CLIP-seq
MIRT2608492	hsa-miR-520e	CLIP-seq
MIRT2608493	hsa-miR-520f	CLIP-seq
MIRT2608494	hsa-miR-522	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2087177	hsa-miR-539	CLIP-seq
MIRT2608495	hsa-miR-543	CLIP-seq
MIRT2608496	hsa-miR-557	CLIP-seq
MIRT2087178	hsa-miR-580	CLIP-seq
MIRT2608497	hsa-miR-623	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2608498	hsa-miR-627	CLIP-seq
MIRT2608499	hsa-miR-628-5p	CLIP-seq
MIRT2608500	hsa-miR-888	CLIP-seq
MIRT2608501	hsa-miR-889	CLIP-seq
MIRT2608502	hsa-miR-924	CLIP-seq
MIRT2608503	hsa-miR-93	CLIP-seq
MIRT2087180	hsa-miR-938	CLIP-seq
MIRT2608402	hsa-miR-105	CLIP-seq
MIRT2608403	hsa-miR-106a	CLIP-seq
MIRT2608404	hsa-miR-106b	CLIP-seq
MIRT2608405	hsa-miR-1205	CLIP-seq
MIRT2608406	hsa-miR-122	CLIP-seq
MIRT2608410	hsa-miR-1286	CLIP-seq
MIRT2608411	hsa-miR-135a	CLIP-seq
MIRT2608412	hsa-miR-135b	CLIP-seq
MIRT2608413	hsa-miR-138	CLIP-seq
MIRT2608414	hsa-miR-141	CLIP-seq
MIRT2608415	hsa-miR-153	CLIP-seq
MIRT2608416	hsa-miR-17	CLIP-seq
MIRT2608417	hsa-miR-1827	CLIP-seq
MIRT2608419	hsa-miR-200a	CLIP-seq
MIRT2608420	hsa-miR-203	CLIP-seq
MIRT2608422	hsa-miR-20a	CLIP-seq
MIRT2608423	hsa-miR-20b	CLIP-seq
MIRT2608425	hsa-miR-24	CLIP-seq
MIRT2608426	hsa-miR-302a	CLIP-seq
MIRT2608427	hsa-miR-302b	CLIP-seq
MIRT2608428	hsa-miR-302c	CLIP-seq
MIRT2608429	hsa-miR-302d	CLIP-seq
MIRT2608430	hsa-miR-302e	CLIP-seq
MIRT2608431	hsa-miR-3121-3p	CLIP-seq
MIRT2608432	hsa-miR-3140-3p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2608433	hsa-miR-3147	CLIP-seq
MIRT2608435	hsa-miR-3198	CLIP-seq
MIRT2608436	hsa-miR-361-5p	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2608437	hsa-miR-3663-3p	CLIP-seq
MIRT2608438	hsa-miR-370	CLIP-seq
MIRT2608439	hsa-miR-371b-5p	CLIP-seq
MIRT2608440	hsa-miR-372	CLIP-seq
MIRT2608441	hsa-miR-373	CLIP-seq
MIRT2608444	hsa-miR-3920	CLIP-seq
MIRT2608445	hsa-miR-4280	CLIP-seq
MIRT2608446	hsa-miR-4284	CLIP-seq
MIRT2608447	hsa-miR-4309	CLIP-seq
MIRT2608448	hsa-miR-4310	CLIP-seq
MIRT2608449	hsa-miR-4418	CLIP-seq
MIRT2608450	hsa-miR-4425	CLIP-seq
MIRT2608451	hsa-miR-4426	CLIP-seq
MIRT2608453	hsa-miR-4436a	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2608454	hsa-miR-4464	CLIP-seq
MIRT2608455	hsa-miR-4470	CLIP-seq
MIRT2608456	hsa-miR-448	CLIP-seq
MIRT2608457	hsa-miR-4490	CLIP-seq
MIRT2608458	hsa-miR-450b-5p	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT2608459	hsa-miR-4647	CLIP-seq
MIRT2608460	hsa-miR-4649-3p	CLIP-seq
MIRT2608461	hsa-miR-4662b	CLIP-seq
MIRT2608462	hsa-miR-4668-3p	CLIP-seq
MIRT2608464	hsa-miR-4698	CLIP-seq
MIRT2608465	hsa-miR-4699-5p	CLIP-seq
MIRT2608466	hsa-miR-4704-3p	CLIP-seq
MIRT2608468	hsa-miR-4709-3p	CLIP-seq
MIRT2608469	hsa-miR-4719	CLIP-seq
MIRT2608470	hsa-miR-4722-5p	CLIP-seq
MIRT2608471	hsa-miR-4738-3p	CLIP-seq
MIRT2608472	hsa-miR-4742-5p	CLIP-seq
MIRT2608473	hsa-miR-4747-5p	CLIP-seq
MIRT2608474	hsa-miR-4748	CLIP-seq
MIRT2608476	hsa-miR-4765	CLIP-seq
MIRT2608477	hsa-miR-4777-5p	CLIP-seq
MIRT2608478	hsa-miR-4781-3p	CLIP-seq
MIRT2608480	hsa-miR-483-3p	CLIP-seq
MIRT2608481	hsa-miR-494	CLIP-seq
MIRT2608482	hsa-miR-498	CLIP-seq
MIRT2608483	hsa-miR-507	CLIP-seq
MIRT2608484	hsa-miR-509-3-5p	CLIP-seq
MIRT2608485	hsa-miR-509-5p	CLIP-seq
MIRT2608486	hsa-miR-513b	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2608487	hsa-miR-519d	CLIP-seq
MIRT2608488	hsa-miR-520a-3p	CLIP-seq
MIRT2608489	hsa-miR-520b	CLIP-seq
MIRT2608490	hsa-miR-520c-3p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2608491	hsa-miR-520d-3p	CLIP-seq
MIRT2608492	hsa-miR-520e	CLIP-seq
MIRT2608493	hsa-miR-520f	CLIP-seq
MIRT2608494	hsa-miR-522	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2608495	hsa-miR-543	CLIP-seq
MIRT2608496	hsa-miR-557	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2608498	hsa-miR-627	CLIP-seq
MIRT2608499	hsa-miR-628-5p	CLIP-seq
MIRT2608500	hsa-miR-888	CLIP-seq
MIRT2608501	hsa-miR-889	CLIP-seq
MIRT2608502	hsa-miR-924	CLIP-seq
MIRT2608503	hsa-miR-93	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	23202584
GO:0000045	Process	Autophagosome assembly	IDA	19225151, 23392225, 28890335
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000045	Process	Autophagosome assembly	IMP	30778222
GO:0000407	Component	Phagophore assembly site	IDA	28561066
GO:0000407	Component	Phagophore assembly site	IDA	19597335, 28561066
GO:0000407	Component	Phagophore assembly site	IEA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000425	Process	Pexophagy	IBA
GO:0001889	Process	Liver development	IEA
GO:0005515	Function	Protein binding	IPI	19211835, 19597335, 20562859, 21903422, 23262492, 23392225, 23524951, 25686248, 27334615, 28561066, 28890335, 29950492, 31806350, 32707033, 33124732, 33368531, 33422265, 33961781, 34524948, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	28561066
GO:0005764	Component	Lysosome	IEA
GO:0005773	Component	Vacuole	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	21795849
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISO
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	19211835
GO:0019901	Function	Protein kinase binding	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034045	Component	Phagophore assembly site membrane	IEA
GO:0034045	Component	Phagophore assembly site membrane	ISS
GO:0034517	Process	Ribophagy	IBA
GO:0034727	Process	Piecemeal microautophagy of the nucleus	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IDA	23392225
GO:0045087	Process	Innate immune response	IEA
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IEA
GO:0061723	Process	Glycophagy	IBA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:1990316	Component	Atg1/ULK1 kinase complex	IBA
GO:1990316	Component	Atg1/ULK1 kinase complex	IEA
GO:1990316	Component	Atg1/ULK1 kinase complex	IPI	19211835, 19597335
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
606837	15574	ENSG00000023287

Q8TDY2

Protein name

RB1-inducible coiled-coil protein 1 (FAK family kinase-interacting protein of 200 kDa) (FIP200)

Protein function

Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane struc

PDB

6DCE , 6GMA , 7CZG , 7CZM , 7D0E , 7EA2 , 7EAA , 8SOI , 8SQZ , 8SRM , 8W6B , 8YFK , 8YFL , 8YFM , 8YFN , 9C82 , 9D34

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10377	ATG11	1456 → 1589	Autophagy-related protein 11	Family

Tissue specificity

TISSUE SPECIFICITY: Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells. {ECO:0000269|PubMed:11850849, ECO:00

Sequence

MKLYVFLVNTGTTLTFDTELTVQTVADLKHAIQSKYKIAIQHQVLVVNGGECMAADRRVC
TYSAGTDTNPIFLFNKEMILCDRPPAIPKTTFSTENDMEIKVEESLMMPAVFHTVASRTQ
LALEMYEVAKKLCSFCEGLVHDEHLQHQGWAAIMANLEDCSNSYQKLLFKFESIYSNYLQ
SIEDIKLKLTHLGTAVSVMAKIPLLECLTRHSYRECLGRLDSLPEHEDSEKAEMKRSTEL
VLSPDMPRTTNESLLTSFPKSVEHVSPDTADAESGKEIRESCQSTVHQQDETTIDTKDGD
LPFFNVSLLDWINVQDRPNDVESLVRKCFDSMSRLDPRIIRPFIAECRQTIAKLDNQNMK
AIKGLEDRLYALDQMIASCGRLVNEQKELAQGFLANQKRAENLKDASVLPDLCLSHANQL
MIMLQNHRKLLDIKQKCTTAKQELANNLHVRLKWCCFVMLHADQDGEKLQALLRLVIELL
ERVKIVEALSTVPQMYCLAVVEVVRRKMFIKHYREWAGALVKDGKRLYEAEKSKRESFGK
LFRKSFLRNRLFRGLDSWPPSFCTQKPRKFDCELPDISLKDLQFLQSFCPSEVQPFLRVP
LLCDFEPLHQHVLALHNLVKAAQSLDEMSQTITDLLSEQKASVSQTSPQSASSPRMESTA
GITTTTSPRTPPPLTVQDPLCPAVCPLEELSPDSIDAHTFDFETIPHPNIEQTIHQVSLD
LDSLAESPESDFMSAVNEFVIEENLSSPNPISDPQSPEMMVESLYSSVINAIDSRRMQDT
NVCGKEDFGDHTSLNVQLERCRVVAQDSHFSIQTIKEDLCHFRTFVQKEQCDFSNSLKCT
AVEIRNIIEKVKCSLEITLKEKHQKELLSLKNEYEGKLDGLIKETEENENKIKKLKGELV
CLEEVLQNKDNEFALVKHEKEAVICLQNEKDQKLLEMENIMHSQNCEIKELKQSREIVLE
DLKKLHVENDEKLQLLRAELQSLEQSHLKELEDTLQVRHIQEFEKVMTDHRVSLEELKKE
NQQIINQIQESHAEIIQEKEKQLQELKLKVSDLSDTRCKLEVELALKEAETDEIKILLEE
SRAQQKETLKSLLEQETENLRTEISKLNQKIQDNNENYQVGLAELRTLMTIEKDQCISEL
ISRHEEESNILKAELNKVTSLHNQAFEIEKNLKEQIIELQSKLDSELSALERQKDEKITQ
QEEKYEAIIQNLEKDRQKLVSSQEQDREQLIQKLNCEKDEAIQTALKEFKLEREVVEKEL
LEKVKHLENQIAKSPAIDSTRGDSSSLVAELQEKLQEEKAKFLEQLEEQEKRKNEEMQNV
RTSLIAEQQTNFNTVLTREKMRKENIINDLSDKLKSTMQQQERDKDLIESLSEDRARLLE
EKKKLEEEVSKLRSSSFVPSPYVATAPELYGACAPELPGESDRSAVETADEGRVDSAMET
SMMSVQENIHMLSEEKQRIMLLERTLQLKEEENKRLNQRLMSQSMSSVSSRHSEKIAIRD
FQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPGEGASGASRRPWVLGKVM
EKEYCQAKKAQNRFKVPLGTKFYRVKAVSWNKKV

Sequence length

1594

Interactions

View interactions

	KEGG		Reactome
	Autophagy - animal Longevity regulating pathway Alzheimer disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases		Macroautophagy

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs746206314	RCV002249150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (62)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22751121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25255031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25255031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12068296, 16061648, 19437535, 20614030, 21203526, 26829385, 30094720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20614030, 21203526	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26208877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29150439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30094720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38117655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	19888451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	19888451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19888451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30883936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19888451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28760651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22049074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	37137886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26208877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	30237496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21602932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21602932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21602932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	37137886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28347919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28347919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	30094720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35128828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12068296, 16061648, 19437535, 20614030, 21203526, 22751121, 26829385, 30094720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29150439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24610824, 24732589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12068296, 18036779, 19437535, 20614030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12068296, 16061648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12068296, 15138564, 19437535, 20614030, 21203526, 21602932, 21637919, 24610824, 24732589, 24888584, 24888590, 25255031, 30180906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33340270	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	23633228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12163359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12163359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29150439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	30237496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24610824, 24732589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	19437535, 21203526, 21637919, 30237496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	21203526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26151896		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33340270	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37615536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28381171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27615604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RB1CC1 (RB1 inducible coiled-coil 1)